Metadata
Title
Amanda Spurdle
Category
general
UUID
ee022e541b9c4f48ae1de976b35a7c00
Source URL
https://about.uq.edu.au/experts/4277
Parent URL
https://about.uq.edu.au/experts/1976
Crawl Time
2026-03-11T07:32:31+00:00
Rendered Raw Markdown 
# Amanda Spurdle

**Source**: https://about.uq.edu.au/experts/4277
**Parent**: https://about.uq.edu.au/experts/1976

Honorary Professor

# Amanda Spurdle

Email:
:   [a.spurdle@uq.edu.au](mailto:a.spurdle@uq.edu.au)

## Positions

Honorary Professor
:   School of Biomedical Sciences
:   Faculty of Health, Medicine and Behavioural Sciences

## Overview

### Availability

Honorary Professor Amanda Spurdle is:
:   Available for supervision

### Fields of research

[Genetics](https://about.uq.edu.au/experts/search?research-field=4839)
[Oncology and carcinogenesis](https://about.uq.edu.au/experts/search?research-field=4892)

## Works

[Search Professor Amanda Spurdle’s works on UQ eSpace](http://espace.library.uq.edu.au/list/author_id/2463)

[All
(227)](https://about.uq.edu.au/experts-publication/4277/all)
[Journal Article
(224)](https://about.uq.edu.au/experts-publication/4277/4748)
[Conference Publication
(3)](https://about.uq.edu.au/experts-publication/4277/4751)

2025

Journal Article

##### BRCA1-, BRCA2-, and PALB2-related Fanconi anemia: Scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes

Johnatty, Sharon E., Tudini, Emma, Parsons, Michael T., Michailidou, Kyriaki, Zanti, Maria, Canson, Daffodil M., Davidson, Aimee L., Berger, Tamar, Rosti, Rasim Ozgur, Kratz, Christian P., Kalb, Reinhard, McReynolds, Lisa J., Giri, Neelam, Richardson, Marcy E., Pesaran, Tina, Surrallés, Jordi, Pujol, Roser, Vundinti, Babu Rao, George, Merin, Maxwell, Kara N., Nathanson, Kate, Domchek, Susan, Fiesco-Roa, Moisés Ó., Frias, Sara, García-de-Teresa, Benilde, Jongmans, Marjolijn, Lalani, Seema, Maiburg, Merel, Prescott, Katrina ... Spurdle, Amanda B. (2025). BRCA1-, BRCA2-, and PALB2-related Fanconi anemia: Scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes. American Journal of Human Genetics, 112 (12), 2902-2921. doi: 10.1016/j.ajhg.2025.10.007

[BRCA1-, BRCA2-, and PALB2-related Fanconi anemia: Scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes](https://espace.library.uq.edu.au/view/UQ:55d2048)

2025

Journal Article

##### TP53 minigene analysis of 161 sequence changes provides evidence for role of spatial constraint and regulatory elements on variant-induced splicing impact

Canson, Daffodil M., Llinares-Burguet, Inés, Fortuno, Cristina, Sanoguera-Miralles, Lara, Bueno-Martínez, Elena, de la Hoya, Miguel, Spurdle, Amanda B. and Velasco-Sampedro, Eladio A. (2025). TP53 minigene analysis of 161 sequence changes provides evidence for role of spatial constraint and regulatory elements on variant-induced splicing impact. npj Genomic Medicine, 10 (1) 37, 1-11. doi: 10.1038/s41525-025-00498-0

[TP53 minigene analysis of 161 sequence changes provides evidence for role of spatial constraint and regulatory elements on variant-induced splicing impact](https://espace.library.uq.edu.au/view/UQ:0d75844)

2025

Journal Article

##### Characteristics predicting reduced penetrance variants in the high-risk cancer predisposition gene TP53

Fortuno, Cristina, Richardson, Marcy E., Pesaran, Tina, McGoldrick, Kelly, James, Paul A. and Spurdle, Amanda B. (2025). Characteristics predicting reduced penetrance variants in the high-risk cancer predisposition gene TP53. Human Genetics and Genomics Advances, 6 (4) 100484, 100484-4. doi: 10.1016/j.xhgg.2025.100484

[Characteristics predicting reduced penetrance variants in the high-risk cancer predisposition gene TP53](https://espace.library.uq.edu.au/view/UQ:7a5936a)

2025

Journal Article

##### The SeqSplice multiplexed minigene splicing assay for characterization and quantitation of variant-induced BRCA1 and BRCA2 splice isoforms

Canson, Daffodil M., Parsons, Michael T., Moir-Meyer, Gemma, Dumenil, Troy, Montalban, Gemma, Lin, Erica, McVeigh, Terri P., Davidson, Aimee L., Bouckaert, Shaun M., Trau, Matt, Korbie, Darren and Spurdle, Amanda B. (2025). The SeqSplice multiplexed minigene splicing assay for characterization and quantitation of variant-induced BRCA1 and BRCA2 splice isoforms. Genome Research, 35 (9), 2104-2115. doi: 10.1101/gr.279557.124

[The SeqSplice multiplexed minigene splicing assay for characterization and quantitation of variant-induced BRCA1 and BRCA2 splice isoforms](https://espace.library.uq.edu.au/view/UQ:36c37dc)

2025

Journal Article

##### Consultation informs strategies for improving the use of functional evidence in variant classification

Villani, Rehan M., Terrill, Bronwyn, Tudini, Emma, McKenzie, Maddison E., Cliffe, Corrina C., Hahn, Christopher N., Lundie, Ben, Mattiske, Tessa, Matotek, Ebony, McEwen, Abbye E., Nickerson, Sarah L., Breen, James, Fowler, Douglas M., Christodoulou, John, Starita, Lea, Rubin, Alan F. and Spurdle, Amanda B. (2025). Consultation informs strategies for improving the use of functional evidence in variant classification. American Journal of Human Genetics, 112 (6), 1489-1495. doi: 10.1016/j.ajhg.2025.05.003

[Consultation informs strategies for improving the use of functional evidence in variant classification](https://espace.library.uq.edu.au/view/UQ:a7ec43d)

2025

Journal Article

##### Insights on improving accessibility and usability of functional data to unlock their potential for variant interpretation

Park, Min Seon, Kumar, Runjun D., Ovadiuc, Cristian, Folta, Andrew, McEwen, Abbye E., Snyder, Ashley, Villani, Rehan M., Spurdle, Amanda B., Fowler, Douglas M., Rubin, Alan F., Shirts, Brian H., Starita, Lea M. and Stergachis, Andrew B. (2025). Insights on improving accessibility and usability of functional data to unlock their potential for variant interpretation. American Journal of Human Genetics, 112 (6), 1468-1478. doi: 10.1016/j.ajhg.2025.04.009

[Insights on improving accessibility and usability of functional data to unlock their potential for variant interpretation](https://espace.library.uq.edu.au/view/UQ:6098d89)

2025

Journal Article

##### Exploring the role of splicing in TP53 variant pathogenicity through predictions and minigene assays

Fortuno, Cristina, Llinares-Burguet, Ines, Canson, Daffodil M., de la Hoya, Miguel, Bueno-Martinez, Elena, Sanoguera-Miralles, Lara, Caldes, Sonsoles, James, Paul A., Velasco-Sampedro, Eladio A. and Spurdle, Amanda B. (2025). Exploring the role of splicing in TP53 variant pathogenicity through predictions and minigene assays. Human Genomics, 19 (1) 2, 1-15. doi: 10.1186/s40246-024-00714-5

[Exploring the role of splicing in TP53 variant pathogenicity through predictions and minigene assays](https://espace.library.uq.edu.au/view/UQ:42ac49e)

2025

Journal Article

##### Integration of protein stability and AlphaMissense scores improves bioinformatic impact prediction for p53 missense and in-frame amino acid deletion variants

Rotenberg, Nitsan, Fortuno, Cristina, Varga, Matthew J., Chamberlin, Adam C., Ramadane-Morchadi, Lobna, Feng, Bing-Jian, de la Hoya, Miguel, Richardson, Marcy E. and Spurdle, Amanda B. (2025). Integration of protein stability and AlphaMissense scores improves bioinformatic impact prediction for p53 missense and in-frame amino acid deletion variants. American Journal of Human Genetics, 112 (5), 1003-1014. doi: 10.1016/j.ajhg.2025.01.012

[Integration of protein stability and AlphaMissense scores improves bioinformatic impact prediction for p53 missense and in-frame amino acid deletion variants](https://espace.library.uq.edu.au/view/UQ:b32ed76)

2025

Journal Article

##### ACMG/AMP interpretation of BRCA1 missense variants: Structure-informed scores add evidence strength granularity to the PP3/BP4 computational evidence

Ramadane-Morchadi, Lobna, Rotenberg, Nitsan, Esteban-Sánchez, Ada, Fortuno, Cristina, Gómez-Sanz, Alicia, Varga, Matthew J., Chamberlin, Adam, Richardson, Marcy E., Michailidou, Kyriaki, Pérez-Segura, Pedro, Spurdle, Amanda B. and de la Hoya, Miguel (2025). ACMG/AMP interpretation of BRCA1 missense variants: Structure-informed scores add evidence strength granularity to the PP3/BP4 computational evidence. American Journal of Human Genetics, 112 (5), 993-1002. doi: 10.1016/j.ajhg.2024.12.011

[ACMG/AMP interpretation of BRCA1 missense variants: Structure-informed scores add evidence strength granularity to the PP3/BP4 computational evidence](https://espace.library.uq.edu.au/view/UQ:c3d02d4)

2024

Journal Article

##### Germline copy number variants and endometrial cancer risk

Stylianou, Cassie E., Wiggins, George A. R., Lau, Vanessa L., Dennis, Joe, Shelling, Andrew N., Wilson, Michelle, Sykes, Peter, Amant, Frederic, Annibali, Daniela, De Wispelaere, Wout, Easton, Douglas F., Fasching, Peter A., Glubb, Dylan M., Goode, Ellen L., Lambrechts, Diether, Pharoah, Paul D. P., Scott, Rodney J., Tham, Emma, Tomlinson, Ian, Bolla, Manjeet K., Couch, Fergus J., Czene, Kamila, Dörk, Thilo, Dunning, Alison M., Fletcher, Olivia, García-Closas, Montserrat, Hoppe, Reiner, ABCTB Investigators, Clarke, Christine ... Walker, Logan C. (2024). Germline copy number variants and endometrial cancer risk. Human Genetics, 143 (12), 1-18. doi: 10.1007/s00439-024-02707-9

[Germline copy number variants and endometrial cancer risk](https://espace.library.uq.edu.au/view/UQ:fe5d2c8)

2024

Journal Article

##### Unrecognised actionability for breast cancer risk variants identified in a national-level review of Australian familial cancer centres

Fortuno, Cristina, Cops, Elisa J., Davidson, Aimee L., Hadler, Johanna, Innella, Giovanni, Mckenzie, Maddison E., Parsons, Michael, Campbell, Ainsley M., Dubowsky, Andrew, Fargas, Verna, Field, Michael J., Mar Fan, Helen G., Nichols, Cassandra B., Poplawski, Nicola K., Warwick, Linda, Williams, Rachel, Beshay, Victoria, Edwards, Caitlin, Johns, Andrea, Mcphillips, Mary, Kumar, Vanessa Siva, Scott, Rodney, Williams, Mark, Scott, Hamish, James, Paul A. and Spurdle, Amanda B. (2024). Unrecognised actionability for breast cancer risk variants identified in a national-level review of Australian familial cancer centres. European Journal of Human Genetics, 32 (12), 1632-1639. doi: 10.1038/s41431-024-01705-9

[Unrecognised actionability for breast cancer risk variants identified in a national-level review of Australian familial cancer centres](https://espace.library.uq.edu.au/view/UQ:b90205b)

2024

Journal Article

##### Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 variant curation expert panel

Parsons, Michael T., de la Hoya, Miguel, Richardson, Marcy E., Tudini, Emma, Anderson, Michael, Berkofsky-Fessler, Windy, Caputo, Sandrine M., Chan, Raymond C., Cline, Melissa S., Feng, Bing-Jian, Fortuno, Cristina, Gomez-Garcia, Encarna, Hadler, Johanna, Hiraki, Susan, Holdren, Megan, Houdayer, Claude, Hruska, Kathleen, James, Paul, Karam, Rachid, Leong, Huei San, Martins, Alexandra, Mensenkamp, Arjen R., Monteiro, Alvaro N., Nathan, Vaishnavi, O'Connor, Robert, Pedersen, Inge Sokilde, Pesaran, Tina, Radice, Paolo, Schmidt, Gunnar ... Spurdle, Amanda B. (2024). Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 variant curation expert panel. The American Journal of Human Genetics, 111 (9), 2044-2058. doi: 10.1016/j.ajhg.2024.07.013

[Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 variant curation expert panel](https://espace.library.uq.edu.au/view/UQ:813cc4f)

2024

Journal Article

##### Co-observation of germline pathogenic variants in breast cancer predisposition genes: Results from analysis of the BRIDGES sequencing dataset

Davidson, Aimee L., Michailidou, Kyriaki, Parsons, Michael T., Fortuno, Cristina, Bolla, Manjeet K., Wang, Qin, Dennis, Joe, Naven, Marc, Abubakar, Mustapha, Ahearn, Thomas U., Alonso, M. Rosario, Andrulis, Irene L., Antoniou, Antonis C., Auvinen, Päivi, Behrens, Sabine, Bermisheva, Marina A., Bogdanova, Natalia V., Bojesen, Stig E., Brüning, Thomas, Byers, Helen J., Camp, Nicola J., Campbell, Archie, Castelao, Jose E., Cessna, Melissa H., Chang-Claude, Jenny, Chanock, Stephen J., Chenevix-Trench, Georgia, Sahlberg, Kristine K., Børresen-Dale, Anne-Lise ... kConFab Investigators (2024). Co-observation of germline pathogenic variants in breast cancer predisposition genes: Results from analysis of the BRIDGES sequencing dataset. The American Journal of Human Genetics, 111 (9), 2059-2069. doi: 10.1016/j.ajhg.2024.07.004

[Co-observation of germline pathogenic variants in breast cancer predisposition genes: Results from analysis of the BRIDGES sequencing dataset](https://espace.library.uq.edu.au/view/UQ:b835f00)

2024

Journal Article

##### Regional-specific calibration enables application of computational evidence for clinical classification of 5′ cis-regulatory variants in Mendelian disease

Villani, Rehan M., McKenzie, Maddison E., Davidson, Aimee L. and Spurdle, Amanda B. (2024). Regional-specific calibration enables application of computational evidence for clinical classification of 5′ cis-regulatory variants in Mendelian disease. American Journal of Human Genetics, 111 (7), 1301-1315. doi: 10.1016/j.ajhg.2024.05.002

[Regional-specific calibration enables application of computational evidence for clinical classification of 5′ cis-regulatory variants in Mendelian disease](https://espace.library.uq.edu.au/view/UQ:7e50487)

2024

Journal Article

##### Challenges and approaches to calibrating patient phenotype as evidence for cancer gene variant classification under ACMG/AMP guidelines

Fortuno, Cristina, Michailidou, Kyriaki, Parsons, Michael, Dolinsky, Jill S., Pesaran, Tina, Yussuf, Amal, Mester, Jessica L., Hruska, Kathleen S., Hiraki, Susan, O'Connor, Robert, Chan, Raymond C., Kim, Serra, Tavtigian, Sean, Goldgar, David, James, Paul A. and Spurdle, Amanda B. (2024). Challenges and approaches to calibrating patient phenotype as evidence for cancer gene variant classification under ACMG/AMP guidelines. Human Molecular Genetics, 33 (8), 724-732. doi: 10.1093/hmg/ddae009

[Challenges and approaches to calibrating patient phenotype as evidence for cancer gene variant classification under ACMG/AMP guidelines](https://espace.library.uq.edu.au/view/UQ:ed0d06c)

2023

Journal Article

##### The clinical utility and costs of whole-genome sequencing to detect cancer susceptibility variants—a multi-site prospective cohort study

Davidson, Aimee L., Dressel, Uwe, Norris, Sarah, Canson, Daffodil M., Glubb, Dylan M., Fortuno, Cristina, Hollway, Georgina E., Parsons, Michael T., Vidgen, Miranda E., Holmes, Oliver, Koufariotis, Lambros T., Lakis, Vanessa, Leonard, Conrad, Wood, Scott, Xu, Qinying, McCart Reed, Amy E., Pickett, Hilda A., Al-Shinnag, Mohammad K., Austin, Rachel L., Burke, Jo, Cops, Elisa J., Nichols, Cassandra B., Goodwin, Annabel, Harris, Marion T., Higgins, Megan J., Ip, Emilia L., Kiraly-Borri, Catherine, Lau, Chiyan, Mansour, Julia L. ... Ward, Robyn L. (2023). The clinical utility and costs of whole-genome sequencing to detect cancer susceptibility variants—a multi-site prospective cohort study. Genome Medicine, 15 (1) 74, 1-16. doi: 10.1186/s13073-023-01223-1

[The clinical utility and costs of whole-genome sequencing to detect cancer susceptibility variants—a multi-site prospective cohort study](https://espace.library.uq.edu.au/view/UQ:678d691)

2023

Journal Article

##### Design and quality control of large-scale two-sample Mendelian randomization studies

Haycock, Philip C, Borges, Maria Carolina, Burrows, Kimberley, Lemaitre, Rozenn N, Harrison, Sean, Burgess, Stephen, Chang, Xuling, Westra, Jason, Khankari, Nikhil K, Tsilidis, Kostas K, Gaunt, Tom, Hemani, Gibran, Zheng, Jie, Truong, Therese, O'Mara, Tracy A, Spurdle, Amanda B, Law, Matthew H, Slager, Susan L, Birmann, Brenda M, Saberi Hosnijeh, Fatemeh, Mariosa, Daniela, Amos, Christopher I, Hung, Rayjean J, Zheng, Wei, Gunter, Marc J, Davey Smith, George, Relton, Caroline and Martin, Richard M (2023). Design and quality control of large-scale two-sample Mendelian randomization studies. International Journal of Epidemiology, 52 (5), 1498-1521. doi: 10.1093/ije/dyad018

[Design and quality control of large-scale two-sample Mendelian randomization studies](https://espace.library.uq.edu.au/view/UQ:dbb78ca)

2023

Journal Article

##### Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup

Walker, Logan C., Hoya, Miguel de la, Wiggins, George A R, Lindy, Amanda, Vincent, Lisa M., Parsons, Michael T., Canson, Daffodil M., Bis-Brewer, Dana, Cass, Ashley, Tchourbanov, Alexander, Zimmermann, Heather, Byrne, Alicia B., Pesaran, Tina, Karam, Rachid, Harrison, Steven M., Spurdle, Amanda B. and ClinGen Sequence Variant Interpretation Working Group (2023). Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup. American Journal of Human Genetics, 110 (7), 1046-1067. doi: 10.1016/j.ajhg.2023.06.002

[Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup](https://espace.library.uq.edu.au/view/UQ:290d7fb)

2023

Journal Article

##### The association between genetically elevated polyunsaturated fatty acids and risk of cancer

Tintle, Nathan, Rice, Terri, Cheng, Iona, Jenkins, Mark, Gallinger, Steve, Cornish, Alex J., Sud, Amit, Vijayakrishnan, Jayaram, Wrensch, Margaret, Johansson, Mattias, Norman, Aaron D., Klein, Alison, Clay-Gilmour, Alyssa, Franke, Andre, Ardisson Korat, Andres V., Wheeler, Bill, Nilsson, Björn, Smith, Caren, Heng, Chew-Kiat, Song, Ci, Riadi, David, Claus, Elizabeth B., Ellinghaus, Eva, Ostroumova, Evgenia, Hosnijeh,, de Vathaire, Florent, Cugliari, Giovanni, Matullo, Giuseppe, Oi-Lin Ng, Irene ... Martin, Richard M. (2023). The association between genetically elevated polyunsaturated fatty acids and risk of cancer. eBioMedicine, 91 104510. doi: 10.1016/j.ebiom.2023.104510

[The association between genetically elevated polyunsaturated fatty acids and risk of cancer](https://espace.library.uq.edu.au/view/UQ:ff4edd1)

2023

Journal Article

##### Splicing annotation of endometrial cancer GWAS risk loci reveals potentially causal variants and supports a role for NF1 and SKAP1 as susceptibility genes

Canson, Daffodil M., O’Mara, Tracy A., Spurdle, Amanda B. and Glubb, Dylan M. (2023). Splicing annotation of endometrial cancer GWAS risk loci reveals potentially causal variants and supports a role for NF1 and SKAP1 as susceptibility genes. Human Genetics and Genomics Advances, 4 (2) 100185, 1-7. doi: 10.1016/j.xhgg.2023.100185

[Splicing annotation of endometrial cancer GWAS risk loci reveals potentially causal variants and supports a role for NF1 and SKAP1 as susceptibility genes](https://espace.library.uq.edu.au/view/UQ:7525783)

## Funding

### Past funding

- 2017 - 2020

  Expanding diagnostic approaches for Lynch syndrome (NHMRC Project Grant administered by the University of Melbourne)

  University of Melbourne

  [Open grant](https://about.uq.edu.au/experts/project/31117)

## Supervision

### Availability

Honorary Professor Amanda Spurdle is:
:   Available for supervision

Looking for a supervisor? Read our advice on [how to choose a supervisor](https://study.uq.edu.au/study-options/phd-mphil-professional-doctorate/how-to-choose-a-supervisor).

### Available projects

- #### [Evaluation of variants in known or candidate high-risk cancer genes](https://www.qimrberghofer.edu.au/student-projects/evaluation-of-variants-in-known-or-candidate-high-risk-cancer-genes/)

  ***Background:*** Panel gene testing is increasingly applied to identify the underlying genetic cause of cancer in patients with suspected hereditary cancer. Identification of a pathogenic variant directly influences clinical management for patients and their at-risk relatives, setting the path for preventative and increasingly chemotherapeutic options. Unfortunately, such testing often identifies variants with uncertain impact on function and clinical phenotype. Such variants of uncertain clinical significance create considerable difficulties for counselling and clinical management. A range of methods can be useful for assessing variants, including bioinformatic analysis, assays of mRNA and protein function, and also investigating association with clinical features such as segregation in families, age at onset /phenotype in case-control studies and tumour pathology.

  ***Aim:*** To use statistical and laboratory methods to assess the clinical relevance of rare cancer gene sequence variants identified by clinical genetic testing of patients with suspected hereditary cancer, identified in Australia or through the international consortia such as ENIGMA.

  ***Approach:*** This project will assess the effect of variants on gene/protein function using a variety of bioinformatic predictions, molecular biological assays and/or statistical analyses. Techniques may include RNA analyses using LCLs and/or constructs, protein assays in collaboration with other laboratories, pedigree analysis and simple statistical analyses of clinical factors predictive of pathogenic variant status, to develop calibrated measures of association with disease for use in multifactorial likelihood analysis.

  ***Outcome:*** Analysis of specific variants will provide evidence regarding their pathogenicity for translation in the clinical setting. Comparison of assay results with risk will form the foundation for improving bioinformatic prediction tools and incorporating predictions and/or biological assay results in statistical models of risk prediction.

  Read more
  Read less

### Supervision history

#### Completed supervision

- 2022

  Doctor Philosophy

  ##### [Bioinformatic and mRNA analysis of germline variants implicated in cancer risk](https://espace.library.uq.edu.au/view/UQ:947a4e6)

  Principal Advisor

  Other advisors:
  [Hon Assoc Professor Dylan Glubb](https://about.uq.edu.au/experts/25115)
- 2020

  Doctor Philosophy

  ##### [Classification of germline variants in the TP53 gene: from uncertainty to clinical action](https://espace.library.uq.edu.au/view/UQ:8eb4b92)

  Principal Advisor
- 2020

  Doctor Philosophy

  ##### [Identification of genetic variants associated with risk of endometrial cancer](https://espace.library.uq.edu.au/view/UQ:47d0aa6)

  Principal Advisor
- 2014

  Doctor Philosophy

  ##### [Interpreting the clinical significance of mismatch repair gene sequence variants](https://espace.library.uq.edu.au/view/UQ:345624)

  Principal Advisor
- 2008

  Doctor Philosophy

  ##### [BRCA1 interactors and cancer](https://espace.library.uq.edu.au/view/UQ:138971)

  Principal Advisor

  Other advisors:
  [Honorary Professor Kum Kum Khanna](https://about.uq.edu.au/experts/3265)
- 2022

  Doctor Philosophy

  ##### [Next generation sequencing analysis for the diagnosis of suspected hereditary cancer cases](https://espace.library.uq.edu.au/view/UQ:21faa04)

  Associate Advisor
- 2014

  Doctor Philosophy

  ##### [Hereditary endometrial cancer: Improving identification and referral of patients with suspected Lynch syndrome](https://espace.library.uq.edu.au/view/UQ:327684)

  Associate Advisor

  Other advisors:
  [Professor Andreas Obermair](https://about.uq.edu.au/experts/5973), [Associate Professor Lisa Fitzgerald](https://about.uq.edu.au/experts/1976)

View all 7 completed supervisions
View less

## Media

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